Prospective implementation of an aqueous humor liquid biopsy platform informs clinical diagnosis and management of retinoblastoma and other intraocular lesions.

LBSeq4Kids is a clinically validated liquid biopsy platform combining low passage whole genome sequencing (low passage whole genome sequencing) for copy number alterations (copy number alterations) and a custom cancer targeted sequencing panel (targeted sequencing panel) to detect sequence variants in cell-free DNA from the aqueous humor (aqueous humor) of the eye, cerebrospinal fluid, and plasma.

Ninety-four percent of baseline retinoblastoma samples obtained at diagnosis were positive for copy number alterations by low passage whole genome sequencing and 83% were positive for pathogenic variants by targeted sequencing panel analysis.